Article
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Human mutation - 1 Nov 2017
van Doormaal Perry T C, Ticozzi Nicola, Weishaupt Jochen H, Kenna Kevin, Diekstra Frank P, Verde Federico, Andersen Peter M, Dekker Annelot M, Tiloca Cinzia, Marroquin Nicolai, Overste Daniel J, Pensato Viviana, Nürnberg Peter, Pulit Sara L, Schellevis Raymond D, Calini Daniela, Altmüller Janine, Francioli Laurent C, Muller Bernard, Castellotti Barbara, Motameny Susanne, Ratti Antonia, Wolf Joachim, Gellera Cinzia, Ludolph Albert C, van den Berg Leonard H, Kubisch Christian, Landers John E, Veldink Jan H, Silani Vincenzo, Volk Alexander E
Abstract excerpt
The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis; however, results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study, we analyzed whole-exome data from 82 new...
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